Incidental Mutation 'R6750:Dyrk4'
ID 530692
Institutional Source Beutler Lab
Gene Symbol Dyrk4
Ensembl Gene ENSMUSG00000030345
Gene Name dual-specificity tyrosine phosphorylation regulated kinase 4
Synonyms Dyrk4b, Dyrk4a
MMRRC Submission 044867-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6750 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 126852983-126898802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126875918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 106 (Q106K)
Ref Sequence ENSEMBL: ENSMUSP00000077606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078521]
AlphaFold Q8BI55
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032495
Predicted Effect probably benign
Transcript: ENSMUST00000078521
AA Change: Q106K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345
AA Change: Q106K

DomainStartEndE-ValueType
S_TKc 219 515 2.9e-84 SMART
low complexity region 555 573 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to a conserved family of serine/threonine protein kinases. Members of this dual specificity kinase family are thought to function in the regulation of cell differentiation and proliferation, survival, and in development. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
PHENOTYPE: Contrary to expectation, homozygous null males are fertile and do not exhibit any obvious dysfunction in spermatogenesis, sperm motility and fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A T 2: 120,973,130 (GRCm39) L62F probably damaging Het
Akap13 C T 7: 75,389,206 (GRCm39) P2375S probably benign Het
Apob T A 12: 8,047,853 (GRCm39) L931Q probably damaging Het
Arcn1 A G 9: 44,661,691 (GRCm39) V391A possibly damaging Het
Ccdc162 A T 10: 41,437,222 (GRCm39) I1729N possibly damaging Het
Cd24a T C 10: 43,458,721 (GRCm39) L86P unknown Het
Cdcp3 T A 7: 130,889,974 (GRCm39) probably benign Het
Churc1 C A 12: 76,822,405 (GRCm39) H71Q probably damaging Het
Clcn3 A G 8: 61,367,809 (GRCm39) L780P possibly damaging Het
Cldn17 C T 16: 88,303,195 (GRCm39) G178E possibly damaging Het
Cmah A G 13: 24,648,235 (GRCm39) Y345C probably damaging Het
Cntnap5b C T 1: 100,202,224 (GRCm39) S357L probably damaging Het
Col6a6 A G 9: 105,660,879 (GRCm39) I410T probably damaging Het
Crmp1 T C 5: 37,422,666 (GRCm39) probably null Het
Csmd2 A C 4: 128,091,018 (GRCm39) N186H possibly damaging Het
Cyp1a1 A T 9: 57,607,539 (GRCm39) M56L probably benign Het
D2hgdh G C 1: 93,754,129 (GRCm39) R56P probably benign Het
Dapk2 A G 9: 66,128,034 (GRCm39) E104G probably damaging Het
Dld T C 12: 31,382,213 (GRCm39) N498S probably benign Het
Eif2b4 T C 5: 31,347,304 (GRCm39) I333V probably damaging Het
F5 A G 1: 164,021,076 (GRCm39) T1184A possibly damaging Het
Fbxl6 C T 15: 76,422,612 (GRCm39) G102D probably damaging Het
Foxa1 C T 12: 57,589,396 (GRCm39) G275R probably benign Het
Fryl A G 5: 73,179,575 (GRCm39) I2944T probably damaging Het
Gna15 T C 10: 81,350,117 (GRCm39) D95G probably benign Het
Greb1 T A 12: 16,738,584 (GRCm39) M1460L probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Herc2 T C 7: 55,747,195 (GRCm39) I444T probably damaging Het
Ifngr1 T A 10: 19,485,099 (GRCm39) M366K probably benign Het
Krt27 C T 11: 99,239,806 (GRCm39) E253K probably damaging Het
Mical2 C T 7: 111,981,046 (GRCm39) T406I probably damaging Het
Mocs2 T G 13: 114,962,784 (GRCm39) D156E probably damaging Het
Mprip A T 11: 59,586,957 (GRCm39) K43N probably damaging Het
Myo5b A T 18: 74,750,106 (GRCm39) T190S possibly damaging Het
Naa25 C T 5: 121,546,372 (GRCm39) T86M probably damaging Het
Ncam1 T C 9: 49,478,639 (GRCm39) D163G probably damaging Het
Nlrp4f A T 13: 65,329,468 (GRCm39) Y908* probably null Het
Nlrp9b T A 7: 19,757,159 (GRCm39) L132* probably null Het
Nrg1 A C 8: 32,308,124 (GRCm39) S679A probably damaging Het
Or1j1 C A 2: 36,702,954 (GRCm39) R50M possibly damaging Het
Or52p1 C T 7: 104,267,320 (GRCm39) R145C probably damaging Het
Paqr9 A T 9: 95,443,050 (GRCm39) T347S probably damaging Het
Pcdhb21 T C 18: 37,647,501 (GRCm39) L210P probably damaging Het
Pdzd7 T G 19: 45,016,187 (GRCm39) D978A probably benign Het
Phf8-ps A T 17: 33,285,372 (GRCm39) S477T possibly damaging Het
Pkd1l1 A T 11: 8,923,217 (GRCm39) S17T unknown Het
Plcz1 T C 6: 139,974,164 (GRCm39) K93E possibly damaging Het
Pom121l2 G C 13: 22,166,107 (GRCm39) R126P probably damaging Het
Prkg1 C T 19: 31,741,961 (GRCm39) E88K probably benign Het
Psme4 A T 11: 30,803,203 (GRCm39) D15V probably damaging Het
Ptprf A G 4: 118,088,928 (GRCm39) V625A probably benign Het
Rab27a G A 9: 72,992,290 (GRCm39) S106N probably damaging Het
Rasa4 A G 5: 136,129,802 (GRCm39) T261A probably benign Het
Sardh T C 2: 27,118,269 (GRCm39) D487G probably benign Het
Sec16a A G 2: 26,330,030 (GRCm39) Y662H probably benign Het
Sema3d T A 5: 12,635,067 (GRCm39) L711* probably null Het
Septin14 T A 5: 129,773,181 (GRCm39) Y152F probably damaging Het
Smc5 A G 19: 23,220,004 (GRCm39) L411P probably damaging Het
Spata31e5 C A 1: 28,816,495 (GRCm39) E512D probably damaging Het
Spg7 T A 8: 123,800,650 (GRCm39) V39E probably damaging Het
Tas2r117 A G 6: 132,779,817 (GRCm39) probably benign Het
Tle1 A T 4: 72,040,687 (GRCm39) I631N probably damaging Het
Tmed3 T A 9: 89,581,843 (GRCm39) S207C probably damaging Het
Tmem59l G A 8: 70,939,022 (GRCm39) P51S probably benign Het
Trpc3 A G 3: 36,678,542 (GRCm39) Y848H probably damaging Het
Tsen2 T C 6: 115,526,881 (GRCm39) F66S probably damaging Het
Ttll5 T A 12: 86,003,384 (GRCm39) S216R probably damaging Het
Usp22 A T 11: 61,048,042 (GRCm39) V426E probably damaging Het
Vmn2r76 T C 7: 85,875,114 (GRCm39) N621S probably damaging Het
Wdr75 A G 1: 45,856,539 (GRCm39) T521A probably damaging Het
Wrnip1 T A 13: 32,986,739 (GRCm39) D173E probably damaging Het
Zfp317 G A 9: 19,559,100 (GRCm39) G438D probably damaging Het
Zscan10 T A 17: 23,826,164 (GRCm39) S109T possibly damaging Het
Other mutations in Dyrk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Dyrk4 APN 6 126,857,194 (GRCm39) missense probably damaging 1.00
IGL02598:Dyrk4 APN 6 126,860,982 (GRCm39) intron probably benign
IGL02697:Dyrk4 APN 6 126,875,971 (GRCm39) missense possibly damaging 0.88
IGL03127:Dyrk4 APN 6 126,874,134 (GRCm39) missense possibly damaging 0.92
IGL03229:Dyrk4 APN 6 126,863,605 (GRCm39) unclassified probably benign
IGL03248:Dyrk4 APN 6 126,861,016 (GRCm39) missense probably benign 0.05
R0597:Dyrk4 UTSW 6 126,863,612 (GRCm39) splice site probably null
R0862:Dyrk4 UTSW 6 126,854,296 (GRCm39) missense possibly damaging 0.78
R0864:Dyrk4 UTSW 6 126,854,296 (GRCm39) missense possibly damaging 0.78
R1470:Dyrk4 UTSW 6 126,893,337 (GRCm39) nonsense probably null
R1470:Dyrk4 UTSW 6 126,893,337 (GRCm39) nonsense probably null
R1645:Dyrk4 UTSW 6 126,871,756 (GRCm39) nonsense probably null
R1650:Dyrk4 UTSW 6 126,876,792 (GRCm39) missense probably benign 0.28
R1885:Dyrk4 UTSW 6 126,854,144 (GRCm39) missense probably benign 0.15
R3947:Dyrk4 UTSW 6 126,862,268 (GRCm39) missense probably damaging 1.00
R3948:Dyrk4 UTSW 6 126,862,268 (GRCm39) missense probably damaging 1.00
R3949:Dyrk4 UTSW 6 126,862,268 (GRCm39) missense probably damaging 1.00
R4794:Dyrk4 UTSW 6 126,862,300 (GRCm39) missense possibly damaging 0.79
R5991:Dyrk4 UTSW 6 126,857,188 (GRCm39) missense probably benign 0.44
R6143:Dyrk4 UTSW 6 126,863,614 (GRCm39) critical splice donor site probably null
R6269:Dyrk4 UTSW 6 126,863,690 (GRCm39) missense probably damaging 1.00
R6572:Dyrk4 UTSW 6 126,874,201 (GRCm39) missense probably benign
R6598:Dyrk4 UTSW 6 126,853,289 (GRCm39) missense probably benign 0.20
R6703:Dyrk4 UTSW 6 126,867,045 (GRCm39) missense probably damaging 1.00
R7214:Dyrk4 UTSW 6 126,862,200 (GRCm39) missense probably benign 0.35
R7585:Dyrk4 UTSW 6 126,867,007 (GRCm39) missense probably damaging 1.00
R8101:Dyrk4 UTSW 6 126,868,612 (GRCm39) missense possibly damaging 0.87
R8203:Dyrk4 UTSW 6 126,871,797 (GRCm39) missense probably damaging 1.00
R8769:Dyrk4 UTSW 6 126,857,208 (GRCm39) missense possibly damaging 0.49
R8975:Dyrk4 UTSW 6 126,871,783 (GRCm39) missense probably benign 0.00
R9642:Dyrk4 UTSW 6 126,893,253 (GRCm39) missense probably benign 0.05
Z1176:Dyrk4 UTSW 6 126,869,091 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCATGATGCCACTAAGAAC -3'
(R):5'- CACGTTGCTGTGGAGTTAAG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CACGTTGCTGTGGAGTTAAGGATAG -3'
Posted On 2018-08-01